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Atlas of inherited metabolic diseases

紀錄類型:	書目-語言資料,印刷品 : Monograph/item
正題名/作者:	Atlas of inherited metabolic diseases/
作者:	Nyhan, William L.,
其他作者:	Barshop, Bruce Allen.
出版者:	Boca Raton, FL :CRC Press, : c2020.,
面頁冊數:	1 online resource :ill. (some col.) :
標題:	Metabolic disorders in children - Atlases. -
電子資源:	https://www.taylorfrancis.com/books/9781315114033
ISBN:	9781315114033

Atlas of inherited metabolic diseases
Nyhan, William L.,1926-

Atlas of inherited metabolic diseases[electronic resource]. - 4th ed. / - Boca Raton, FL :CRC Press,c2020. - 1 online resource :ill. (some col.)

Includes bibliographical references and index.

In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis. Key Features Fully updated to incorporate all new developments in the field Brand new chapters cover methylmalonic aciduria of ACSF3 deficiency, branched chain keto acid dehydrogenase deficiency, serine deficiencies, purine nucleoside phosphorylase deficiency, antiquitin deficiency, and others Excellent and detailed clinical descriptions, with numerous valuable hints and suggestions for management Helpful explanatory algorithms and decision trees, and high-quality illustrative material including biochemical pathways and an unrivaled photographic collection, which enhance clinical applicability The fourth edition of this highly regarded book, authored by two of the foremost authorities in pediatric metabolic medicine, continues to provide incomparable insight into the problems associated with metabolic diseases and remains invaluable to pediatricians, geneticists, and general clinicians worldwide.

ISBN: 9781315114033

Standard No.: 10.1201/9781315114033doiSubjects--Topical Terms:

971135
Metabolic disorders in children
--Atlases.

LC Class. No.: RB147 / .A85 2018

Dewey Class. No.: 616.39

Atlas of inherited metabolic diseases
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245 1 0 $a Atlas of inherited metabolic diseases $h [electronic resource].
250 $a 4th ed. / $b William L. Nyhan, Georg F. Hoffman ; with contributions from Aida I. Al-Aqeel and Bruce A. Barshop.
260 $a Boca Raton, FL : $b CRC Press, $c c2020.
300 $a 1 online resource : $b ill. (some col.)
504 $a Includes bibliographical references and index.
520 $a In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis. Key Features Fully updated to incorporate all new developments in the field Brand new chapters cover methylmalonic aciduria of ACSF3 deficiency, branched chain keto acid dehydrogenase deficiency, serine deficiencies, purine nucleoside phosphorylase deficiency, antiquitin deficiency, and others Excellent and detailed clinical descriptions, with numerous valuable hints and suggestions for management Helpful explanatory algorithms and decision trees, and high-quality illustrative material including biochemical pathways and an unrivaled photographic collection, which enhance clinical applicability The fourth edition of this highly regarded book, authored by two of the foremost authorities in pediatric metabolic medicine, continues to provide incomparable insight into the problems associated with metabolic diseases and remains invaluable to pediatricians, geneticists, and general clinicians worldwide.
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650 0 $a Metabolism, Inborn errors of $v Case studies. $3 796643
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700 1 $a Barshop, Bruce Allen. $3 971133
700 1 $a Al-Aqeel, Aida I. $3 971134
700 1 $a Hoffman, Georg. $3 1406206
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